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目的通过对一个遗传性听神经病家系进行线粒体DNA全序列分析,为确定其遗传方式提供分子基础。方法选择一个4代11人的听神经病核心家系为研究对象,对现存9名成员及40例散发聋患者外周血DNA进行12 S rRNA(nt1095)聚合酶链反应(PCR)扩增,以及对一例患者进行线粒体DNA全序列PCR扩增。扩增产物通过基因测序进行突变检测和分析。结果所有研究对象的基因区域均扩增成功。9名家系成员及40例散发聋个体12 S rRNA(nt1095)突变检测均为阴性。对一例患者线粒体DNA全序列分析发现了一系列单核苷酸多态性位点,以及一个位于MT-CO1区的nt6251 T→C转换,后者为一同义突变。结论该家系成员不存在线粒体DNA 12 S rRNA T1095C突变,对线粒体DNA全序列分析也未发现有意义的突变位点。结合临床特征和家系谱患者传递规律,确定该家系遗传方式为常染色体显性遗传。
Objective To analyze the mitochondrial DNA sequence of a pedigree of hereditary neuropathy in order to provide a molecular basis for determining its genetic pattern. Methods A 4S11 human auditory neuropathy nuclear family was selected as the research object. 12S rRNA (nt1095) polymerase chain reaction (PCR) amplification was performed on peripheral blood DNA of 9 survivors and 40 patients with sporadic deafness. Patients performed full-length PCR amplification of mitochondrial DNA. Amplification products were sequenced for mutation detection and analysis. Results The gene regions of all the subjects were successfully amplified. 9 family members and 40 cases of deaf individuals were all negative for 12S rRNA (nt1095) mutation. A complete sequence analysis of mitochondrial DNA in one patient revealed a series of single nucleotide polymorphisms and a nt6251 T → C transition in the MT-CO1 region, which is a synonymous mutation. Conclusion There are no mitochondrial DNA 12S rRNA T1095C mutations in this pedigree, and no significant mutation sites were found in mitochondrial DNA sequence analysis. According to the clinical characteristics and transmission rule of pedigree patients, the genetic pattern of the pedigree was determined to be autosomal dominant.